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| Variant ID | 574 |
|---|---|
| Genomic Coordinate (GRCh38) | g.22219077A>T |
| Variant | c.1742A>T |
| Variant Start Position | 1742 |
| Location | Exon 17 |
| Amino Acid Change | p.Glu581Val |
| ACMG Call | - |
| ACMG Call Last Revised Date | 4/28/2021 |
| Predicted ACMG Call | Likely Pathogenic | Effect Type | Missense |
| Variant Type | SNV |
| PMID | 11468271, 11311133, 12727977, 34806794 |
| Article Count | 4 |
| Times Observed | < 3 |
| Clinical Phenotype | - |
| ACMG Categories | ps3, pm2, pp3, bs3 |
| ACMG Explanations | pm2: chrX:22237194 ref:A alt:T was not found in gnomAD exomes or genomes. pp3: The SIFT, MutationTaster, and PolyPhen predictions agree that this variant is possibly or probably damaging. |
| Variant in Clinvar | No |
| ClinVar Classification | - |
| Categories In Literature | bs3, ps3 |
| No Contrary Evidence Found | Yes |
| ExAC Allele Frequency | - |
| Thousand Genomes Allel Frequency | - |
| Ontology Relations | 11468271: fx/no functional consequence, rescue of disease phenotype 11468271: assay/immunofluorescence 11468271: assay/cell surface biotinylation 11468271: assay/pulse-chase assay 11468271: method/site-directed mutagenesis 11468271: method/ plasmid transfection 11468271: model/human cell line, not patient derived 11468271: flg/no loss or gain of function 12727977: fx/abnormal endopeptidase activity 12727977: assay/western blot 12727977: method/site-directed mutagenesis 12727977: method/calcium-phosphate coprecipitation 12727977: model/human cell line, not patient derived 12727977: flg/complete loss of function |
| hg19 Mapping Failed | No |
| Literature Alleles | - |
| GnomAD Alleles | - |
| DBNSFP Alleles | X-22237194-A-T |
| Other Alleles | X-22237194-AA-TG X-22237194-AA-TT X-22237194-AA-TC |
| Note | nan |
| Warnings | - |